EC Number   |
Protein Variants |
Reference |
|---|
   3.4.21.38 | A324P/G531E |
naturally occuring mutation, reduced activity of prekallikrein cleavage |
718416 |
| 3.4.21.38 | C135X |
naturally occuring mutation, Korean patient 2 |
707841 |
| 3.4.21.38 | G582S |
mutation of c11744G>A plus insertion mutation c1093_1094insC, pK365QfsX69, naturally occuring mutation, Korean patient 3 |
707841 |
| 3.4.21.38 | K346N |
the mutation, a G to C point mutation at nucleotide 9845, causes a replacement in the catalytic domain, and congenital FXII deficiency as a rare coagulation disease and an autosomal recessive trait, designated as factor XII Ofunato. The mutant shows a lower level of accumulation in the cells and reduced secretion in culture medium.compared to the wild-type. The mutant shows unaltered FXII mRNA levels but increased degenration of the mutant mRNA in the pre-Golgi compartment of transfected CHO-K1 cells involving the proteasome, overview |
710605 |
| 3.4.21.38 | more |
blood coagulation factor FXII-deficient mice are protected from pathological thrombus formation during cerebral ischemia without bearing an increased bleeding tendency |
-, 708448 |
| 3.4.21.38 | more |
enzyme deletion mutant, protects mice from ischemic brain injury |
669671 |
| 3.4.21.38 | more |
generation of activated factor XII at the surfaces of bacterial cellulose material, synthesized by Acetobacter xylinum, compared to clinically used graft materials, i.e. expanded poly(tetrafluoroethylene) and poly(ethyleneterephtalat), measurement of biomaterial-induced coagulation by developing a automated calibrated thrombin generation method, overview |
706942 |
| 3.4.21.38 | more |
intrinsic coagulation factor XII deficient FXII-/- mice are protected from ischemic stroke, induced by either transient or permanent occlusion of the middle cerebral artery. Investigated of the early ischemic period in vivo by multimodal magnetic resonance imaging at 17.6 Tesla for mechanism analysis |
710089 |
| 3.4.21.38 | more |
preparation of 3-aminopropyltriethoxysilane or n-octadecyltrichlorosilane particles as surfaces, i.e. procoagulants, for contact with the zymogen FXII, its kallikrein-mediated activation, and the activation of the human blood coagulation, surface cotact and assay method development and evaluation, overview |
709176 |
| 3.4.21.38 | more |
the -13C>T gene mutation in the promoter is associated with factor XII deficiency |
696927 |
